Canonical Allele Identifier: CA368841391
Gene: SLC26A4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107696041T>A , CM000669.2:g.107696041T>A GRCh38
NC_000007.13:g.107336486T>A , CM000669.1:g.107336486T>A GRCh37
NC_000007.12:g.107123722T>A NCBI36
NG_008489.1:g.40407T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.1544+2T>A MANE Select ENSP00000494017.1:n.1544+2T>A
ENST00000644846.1:c.255+2T>A
ENST00000265715.7:c.1544+2T>A ENSP00000265715.3:n.1544+2T>A
ENST00000477350.5:n.391+2T>A
ENST00000480841.5:n.393+2T>A
NM_000441.1:c.1544+2T>A NP_000432.1:n.1544+2T>A
XM_005250425.1:c.1544+2T>A XP_005250482.1:n.1544+2T>A
XM_005250425.2:c.1544+2T>A XP_005250482.1:n.1544+2T>A
XM_017012318.1:c.1466+2T>A XP_016867807.1:n.1466+2T>A
NM_000441.2:c.1544+2T>A MANE Select NP_000432.1:n.1544+2T>A